ClinVar Miner

List of variants in gene SPEG studied for Myopathy, centronuclear, 5

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_005876.5(SPEG):c.2226G>A (p.Lys742=) rs10932806 0.42459
NM_005876.5(SPEG):c.2572C>T (p.Arg858Cys) rs199582765 0.00124
NM_005876.5(SPEG):c.4400G>A (p.Arg1467Gln) rs181222936 0.00113
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp) rs55916864 0.00063
NM_005876.5(SPEG):c.4861C>T (p.Arg1621Cys) rs55646900 0.00027
NM_005876.5(SPEG):c.1301G>A (p.Arg434His) rs924342297 0.00025
NM_005876.5(SPEG):c.4298G>A (p.Arg1433Gln) rs200847303 0.00024
NM_005876.5(SPEG):c.52C>T (p.Pro18Ser) rs544959269 0.00019
NM_005876.5(SPEG):c.206C>T (p.Thr69Met) rs768017689 0.00016
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg) rs200114716 0.00013
NM_005876.5(SPEG):c.4883C>T (p.Ala1628Val) rs199971371 0.00006
NM_005876.5(SPEG):c.4927C>T (p.Arg1643Cys) rs570861370 0.00006
NM_005876.5(SPEG):c.418G>A (p.Asp140Asn) rs202151661 0.00003
NM_005876.5(SPEG):c.1149C>T (p.Arg383=) rs1295142218 0.00001
NM_005876.5(SPEG):c.1612C>T (p.Arg538Trp) rs1381276826 0.00001
NM_005876.5(SPEG):c.2134G>A (p.Val712Met) rs375953839 0.00001
NM_005876.5(SPEG):c.2763G>T (p.Glu921Asp) rs956843160 0.00001
NM_005876.5(SPEG):c.3134C>T (p.Thr1045Met) rs62191886 0.00001
NM_005876.5(SPEG):c.3163C>T (p.Arg1055Trp) rs1202116887 0.00001
NM_005876.5(SPEG):c.4129G>A (p.Val1377Met) rs1352203937 0.00001
NM_005876.5(SPEG):c.1114C>G (p.Arg372Gly)
NM_005876.5(SPEG):c.1625C>A (p.Pro542His) rs927960851
NM_005876.5(SPEG):c.2183del (p.Leu728fs) rs1575065895
NM_005876.5(SPEG):c.2372G>A (p.Ser791Asn)
NM_005876.5(SPEG):c.257C>G (p.Pro86Arg)
NM_005876.5(SPEG):c.2915_2916delinsA (p.Ala972fs) rs587777675
NM_005876.5(SPEG):c.3074A>G (p.Lys1025Arg)
NM_005876.5(SPEG):c.340C>T (p.Arg114Trp) rs570323054
NM_005876.5(SPEG):c.3517A>C (p.Ile1173Leu)
NM_005876.5(SPEG):c.3564T>C (p.Pro1188=) rs10167209
NM_005876.5(SPEG):c.3709_3715+29del rs587777674
NM_005876.5(SPEG):c.4117C>G (p.Pro1373Ala) rs200713879
NM_005876.5(SPEG):c.4276C>T (p.Arg1426Ter) rs587777673
NM_005876.5(SPEG):c.4360_4375del (p.Val1454fs)
NM_005876.5(SPEG):c.4362G>T (p.Val1454=)
NM_005876.5(SPEG):c.4377G>A (p.Met1459Ile)
NM_005876.5(SPEG):c.4660G>A (p.Val1554Ile)
NM_005876.5(SPEG):c.800C>A (p.Ala267Glu) rs762057369
NM_005876.5(SPEG):c.851C>T (p.Pro284Leu)

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